[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rett-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rett-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,17,0,[8,56,84,105,147,172,201,226,247,276,296,323,352,376,397,418,445],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":23,"studyType":24,"phases":4,"briefSummary":25,"conditions":26,"keywords":37,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100472474","rett-syndrome-registry-100472474",false,"NCT05432349","Rett Syndrome Registry","Rett Syndrome Real World Data Observational Registry","RSR","Inclusion Criteria:\n\n* Male or female with a pathologic loss of function alteration of MECP2\n\nExclusion Criteria:\n\n* Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication","ALL","0 Years","99 Years",{"count":21,"type":22},3000,"ESTIMATED","5 Years","OBSERVATIONAL","The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.",[27,28,29,30,31,32,33,34,35,36],"Rett Syndrome","Rett Syndrome, Atypical","Genetic Disease","Genetic Diseases, X-Linked","Intellectual Disability","Neurobehavioral Manifestations","Neurologic Manifestations","Neurologic Disorder","Neurodevelopmental Disorders","Nervous System Diseases",[38,39,40,41,42],"Rett syndrome","MECP2","Neurodevelopmental disorder","Registry","Natural History Study","RECRUITING","2026-06-26",{"date":46,"type":47},"2026-06-30","ACTUAL",{"date":49,"type":47},"2022-08-02",{"date":51,"type":22},"2028-07",{"name":53,"class":54},"International Rett Syndrome Foundation","OTHER",19,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":17,"minAge":23,"maxAge":63,"enrollmentInfo":64,"targetDuration":4,"studyType":66,"phases":67,"briefSummary":69,"conditions":70,"keywords":71,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":77,"completionDateStruct":78,"leadSponsor":80,"locationsCount":83},"100631650","phase-3-a-phase-3-study-of-fenfluramine-hydrochloride-in-rett-syndrome-100631650","NCT07503444","A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome","A Phase 3 Randomized, Double-Blind, Placebo Controlled, Parallel Group, Multicenter Study With Open-Label Extension to Evaluate the Efficacy And Safety of Fenfluramine Hydrochloride in Study Participants With Rett Syndrome","Inclusion Criteria:\n\n* Participant has typical or classic Rett Syndrome (RTT) according to the RettSearch Consortium 2010 revised criteria\n* Participant has a documented disease-causing mutation in the methyl-CpG-binding protein 2 (MECP2) gene\n* Participant meets criteria for postregression for at least 6 months prior to Screening, defined as:\n* No loss or degradation of ambulation (including gait, coordination, or independence of walking\u002Fstanding);\n* No loss or degradation of hand function; no loss or degradation of speech (including babbling, words, or previously developed communicative vocalizations);\n* No loss or degradation of nonverbal communicative or social skills (including eye gaze, using body to indicate communicative intent, or social attentiveness)\n* Participant has an Rett Syndrome Clinical Severity Scale (RTT-CSS) rating of 10 to 36 (inclusive)\n* Participant has a Clinical Global Impression-Severity (CGIS) score of ≥4\n* Participant has a legal representative capable of providing signed informed consent on behalf of the participant as described in the protocol, which includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and in the protocol.\n* Participant is aged 5 to 35 years of age (inclusive) at the time of first administration of investigational intervention.\n* Male or female.\n* Participant has a consistent caregiver who is ≥18 years of age at the Screening Visit. The caregiver needs to be able to complete the caregiver assessments defined for the entire study. Every attempt should be made to have the same evaluator complete the assessments for the duration of the study.\n\nExclusion Criteria:\n\n* Participant has a history of lymphoma, leukemia, or any malignancy within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years.\n* Participant has clinically significant abnormality in vital signs according to the Investigator\n* Participant has an exclusionary cardiovascular or cardiopulmonary abnormality based on echocardiogram (ECHO), electrocardiogram (ECG), or physical examination, and is not approved for entry by the central cardiac reader. Exclusionary abnormalities include, but are not limited to:\n\n  1. Greater than trace aortic valve regurgitation.\n  2. Greater than mild mitral valve regurgitation.\n  3. Possible signs of pulmonary arterial hypertension (PAH) with abnormal pulmonary artery systolic pressure (PASP) or PASP ≥35 mmHg.\n  4. Evidence of left ventricular dysfunction (systolic or diastolic).\n  5. Clinically significant structural cardiac abnormality, including but not limited to mitral valve prolapse, atrial or ventricular septal defects, or patent ductus arteriosus with reversal of shunt (right to left shunt). Note: Patent foramen ovale without a reversal of shunt or a bicuspid aortic valve is not considered exclusionary\n* Participant has a clinically significant medical condition, including chronic obstructive pulmonary disease, interstitial lung disease, portal hypertension, or need for invasive mechanical ventilation (eg, via tracheostomy), or has had clinically relevant symptoms or a clinically significant illness currently or in the 4 weeks prior to the Screening Visit that would negatively impact study participation, collection of study data, or pose a risk to the participant\n* Participant is taking \\>4 concomitant antiseizure medications (ASMs). Rescue medications are not included in the count","35 Years",{"count":65,"type":22},200,"INTERVENTIONAL",[68],"PHASE3","The purpose of this study is to investigate the efficacy of fenfluramine hydrochloride (HCl) versus placebo in study participants with Rett syndrome (RTT).",[27],[72,73],"Fenfluramine HCl","RTT","NOT_YET_RECRUITING","2026-06-25",{"date":44,"type":47},{"date":46,"type":22},{"date":79,"type":22},"2030-11-15",{"name":81,"class":82},"UCB BIOSCIENCES, Inc.","INDUSTRY",9,{"id":85,"slug":86,"hasResults":11,"nctId":87,"briefTitle":88,"officialTitle":88,"acronym":4,"eligibilityCriteria":89,"healthyVolunteers":11,"sex":17,"minAge":90,"maxAge":19,"enrollmentInfo":91,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":93,"conditions":94,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":95,"lastUpdatePostDateStruct":96,"startDateStruct":98,"completionDateStruct":100,"leadSponsor":102,"locationsCount":104},"100570328","cognitive-function-in-rett-syndrome-during-trofinetide-treatment-100570328","NCT06705816","Cognitive Function in Rett Syndrome During Trofinetide Treatment","Inclusion Criteria:\n\n* Any individuals who are initiating trofinetide treatment for RTT through the physicians associated with the Gillette Children's RTT clinic will be potentially eligible for participation, regardless of age. To enroll, participants must meet the following criteria:\n\n  1. Provision of signed and dated informed consent form by the individual\\'s parent\u002Flegal guardian\n  2. Stated willingness to comply with all study procedures and availability for the duration of the study\n  3. Documented diagnosis of Rett syndrome\n  4. Participant is not showing active signs of developmental regression, defined as: no loss or degradation of ambulation within the past 6 months; no loss or degradation of hand function within the past 6 months; and no loss or degradation of verbal or non-verbal communication or social skills in the past 6 months.\n  5. Participant's current pharmacological treatment regimen has been stable for at least 4 weeks.\n  6. Seeking prescription for trofinetide through the Gillette Children's Rett syndrome clinic\n\nExclusion Criteria:\n\n1. Diagnosis of a progressive medical or neurological condition that in the opinion of the investigator would interfere with the conduct of the study.\n2. Current clinically significant systemic illness that is likely to result in the deterioration of the participant\\'s condition during the study.\n3. Participants taking any other investigational drug currently or within the past 30 days.\n4. Known, uncorrected visual impairment that would limit the ability to view images during eye-tracking tasks.\n5. Severe behavioral problems (i.e., aggression, property destruction, extreme hyperactivity) that would interfere with participation in study activities.","18 Years",{"count":92,"type":22},20,"Assessing cognitive functions among individuals with severe intellectual and developmental disabilities (IDD), including RTT, is often challenging due to floor effects of many standardized assessment batteries in this population. In addition, deficits in motor function and verbal ability may obscure certain abilities in this population when using standard IQ measures. Remote eye-tracking tasks have been proposed as an alternative approach for assessing cognitive functions among individuals with severe IDD, because eye-tracking tasks can be designed to minimize the influence of gross motor and receptive language deficits on performance. Although several types of eye-tracking tasks have been evaluated in RTT, most have been implemented only at a single time-point. As a result, it is unclear whether these measures are stable over time, or sensitive to developmental changes or alterations to health status that occur in RTT (e.g., developmental regression, development of seizures, change in medication, etc.). With the recent FDA approval of trofinetide for the treatment of RTT, we have a novel opportunity to test the sensitivity of eye-tracking and other psychophysiological measures to treatment changes. Anecdotally, parents and clinicians have reported improvements in attention and alertness during trofinetide treatment, but currently available outcome measures do not capture these types of effects. Therefore, we propose to conduct a pilot trial of changes in measures of attention, oculomotor function, learning, and autonomic function, all collected using non-invasive measures, during trofinetide treatment. This is an observational within-subject design with a 4-week post-treatment assessment compared to two pre-treatment assessments. Additional optional follow-up assessments will be performed with families who are interested and returning for standard-of-care visits to Gillette or who are willing to travel for a research-only visit.",[27],"2026-06-16",{"date":97,"type":47},"2026-06-18",{"date":99,"type":47},"2024-12-01",{"date":101,"type":22},"2027-06",{"name":103,"class":54},"University of Minnesota",1,{"id":106,"slug":107,"hasResults":11,"nctId":108,"briefTitle":109,"officialTitle":110,"acronym":111,"eligibilityCriteria":112,"healthyVolunteers":11,"sex":113,"minAge":114,"maxAge":115,"enrollmentInfo":116,"targetDuration":4,"studyType":66,"phases":118,"briefSummary":119,"conditions":120,"keywords":121,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":138,"lastUpdatePostDateStruct":139,"startDateStruct":141,"completionDateStruct":143,"leadSponsor":145,"locationsCount":104},"100629891","phase-3-safety-and-preliminary-efficacy-of-tsha-102-gene-therapy-in-pediatric-females-aged-2-to-4-years-with-rett-syndrome-100629891","NCT07480564","Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to \u003C4 Years With Rett Syndrome","ASPIRE Study: A Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females Aged >2 to \u003C4 Years With Rett Syndrome","ASPIRE","Inclusion Criteria:\n\n* Pediatric females between the ages of 2 and less than 4 years old.\n* Participant has a clinical diagnosis of classic\u002Ftypical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of gene function.\n* Participants must be willing to receive blood or blood products for the treatment of an AE if medically needed.\n* Participants and parent\u002Fcaregiver must agree to reside within easy access to the study site prior to the baseline visit and at least 3 months after TSHA-102 treatment.\n\nExclusion Criteria:\n\n* Participant has another neurodevelopmental disorder independent of the MECP2 loss-of-function mutation, or any other genetic syndrome with a progressive course.\n* Participant has a history of brain injury that causes neurological problems or had grossly abnormal psychomotor development in the first 6 months of life.\n* Participant has a diagnosis of atypical Rett syndrome or a MECP2 gene mutation that does not cause Rett syndrome.\n* Participant requires invasive ventilatory support.\n\nNote: Other protocol defined inclusion\u002Fexclusion criteria may apply","FEMALE","2 Years","3 Years",{"count":117,"type":22},3,[68],"The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.",[27],[35,122,39,123,124,125,73,126,127,128,129,130,30,36,131,132,133,134,33,31,135,136,137],"Rett","AAV9","Typical Rett Syndrome","Classic Rett Syndrome","Rett Disorder","Retts","MECP2-Related Disorder","Gene Therapy","Intrathecal Administration","Developmental Regression","TSHA-102","miRARE","Self-complementary Vector","Pathologic Process","X-Linked Intellectual Disability","Congenital, Hereditary, and Neonatal Diseases and Abnormalities","2026-05-20",{"date":140,"type":47},"2026-05-22",{"date":142,"type":47},"2026-05-08",{"date":144,"type":22},"2031-06",{"name":146,"class":82},"Taysha Gene Therapies, Inc.",{"id":148,"slug":149,"hasResults":11,"nctId":150,"briefTitle":151,"officialTitle":151,"acronym":4,"eligibilityCriteria":152,"healthyVolunteers":153,"sex":17,"minAge":114,"maxAge":4,"enrollmentInfo":154,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":156,"conditions":157,"keywords":158,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":170,"locationsCount":104},"100636727","auditory-eeg-and-behavioral-assessments-in-individuals-with-rett-syndrome-100636727","NCT07569445","Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome","Rett Syndrome Participants:\n\nInclusion Criteria:\n\n* Have a clinical diagnosis of classic Rett syndrome\n* Have a pathogenic MECP2 genetic variant confirmed via genetic testing\n* Are past the clinical regression stage\n* Are within the eligible age range for the study (2 years or older)\n* Are able to tolerate the noninvasive EEG recording\n* Parent or caregiver is willing and able to provide parental permission and complete questionnaires and interviews\n\nExclusion Criteria:\n\n* Experiences hearing impairment or hearing loss\n* Presence of medical conditions that would prevent safe participation in EEG recording\n* Inability to tolerate EEG procedures\n* Any condition that in the opinion of the investigator would interfere with study participation or data quality\n\nControls\n\nInclusion Criteria:\n\n* Neurologically healthy individuals ages 2 years or older\n* Are able to tolerate the noninvasive EEG recording\n\nExclusion Criteria:\n\n* Experiences hearing impairment or hearing loss\n* Medical history of genetic, neurological, or psychiatric disorders\n* History of special education services\n* Inability to tolerate EEG procedures\n* Any condition that in the opinion of the investigator would interfere with study participation or data quality",true,{"count":155,"type":22},60,"This observational research study is designed to learn more about how the brain processes sound in individuals with Rett syndrome. Participants will complete a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. In addition, parents or caregivers will complete questionnaires and an interview about the participant's symptoms, communication abilities, daily functioning and overall health. The information collected from this study may help researchers better understand brain activity patterns and clinical features associated with Rett syndrome and support future research efforts.",[27],[159,160,161,162],"Electroencephalography","EEG","Brain activity","Biomarkers","2026-04-28",{"date":165,"type":47},"2026-05-06",{"date":167,"type":47},"2025-07-31",{"date":169,"type":22},"2027-08",{"name":171,"class":54},"University of Rochester",{"id":173,"slug":174,"hasResults":11,"nctId":175,"briefTitle":176,"officialTitle":177,"acronym":4,"eligibilityCriteria":178,"healthyVolunteers":11,"sex":113,"minAge":179,"maxAge":180,"enrollmentInfo":181,"targetDuration":4,"studyType":66,"phases":183,"briefSummary":185,"conditions":186,"keywords":187,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":192,"lastUpdatePostDateStruct":193,"startDateStruct":195,"completionDateStruct":197,"leadSponsor":199,"locationsCount":104},"100604476","phase-1-rett-revolution-trial-an-exploratory-evaluation-of-the-safety-and-efficacy-of-vorinostat-in-rett-syndrome-100604476","NCT07150013","Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome","Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome Using an \"N of 1\" Study Design","Inclusion Criteria:\n\n1. Female subjects ≥6 years of age and ≤ 21 years of age at time of screening\n2. Has typical Rett Syndrome (RTT), based on diagnostic criteria for RTT described in Neul, et.al., 2010\n3. Has documented, disease causing mutation in the MeCP2 gene\n4. At time of screening, is in the post-regression phase with no degradation of ambulation, hand function, speech or communication skills in the 4 months prior to screening\n5. Has been on a stable regimen of medication or non-pharmacological treatment for at least 4 weeks prior to the baseline visit; if currently taking trofinetide (Daybue), currently on stable dose for the previous 6 months before screening visit\n6. Has had a stable pattern of seizure activity for 4 weeks before screening\n7. Can swallow medication or can take it by gastrostomy tube\n8. Can wear actigraphy data logging device on wrist or ankle\n9. If of childbearing potential, must agree to use a highly effective method of contraception during the study and for 3 months after the last study drug administration (i.e., abstinence from sexual activity, hormonal contraceptives associated with inhibition of ovulation, intrauterine device, intrauterine hormone-releasing system)\n10. Subjects or their legally authorized representative must be able to provide an informed consent and have sufficient language skill to complete caregiver assessments in the language in which the study assessments are provided\n\nExclusion Criteria:\n\n1. Has another clinically significant medical condition other than those related to MeCP2 mutation (e.g. diabetes mellitus, cardiovascular disease, renal disease, respiratory disease, hematological abnormalities, malignancy)\n2. Has major surgery planned during the study period\n3. Pregnant or nursing women\n4. Has a history of brain injury, stroke, other cerebrovascular disease or hypoxic-ischemic encephalopathy\n5. Has clinically significant abnormal vital signs at screening or baseline\n6. Has an abnormal ECG at screening, including clinically significant QT prolongation\n7. Has a clinically significant abnormal laboratory value at screening\n8. Liver disease or transaminase levels \\> 1.5 times the upper limit of the normal range as determined during screening\n9. Has a history of malignancy of any organ system within the past 5 years before screening\n10. Is participating in or has participated in another clinical trial within 30 days prior to the screening visit\n11. Has been treated with growth hormone, IGF-1, or insulin within 12 weeks of baseline\n12. Is taking anticoagulant therapy or other HDAC inhibitors\n13. Has had any change to their medication or non-pharmacological treatment within 4 weeks prior to the baseline visit\n14. Life expectancy of less than 12 months.\n15. Has a history of alcoholism or drug\u002Fchemical abuse within 2 years before screening.\n16. In the investigator's opinion, is inappropriate for this study for any reason","6 Years","21 Years",{"count":182,"type":22},15,[184],"PHASE1","The RETT REVOLUTION trial is a placebo-controlled, single-blinded, exploratory study with patients serving as their own control (\"N of 1\" trial design) where the safety and efficacy of vorinostat in the treatment of Rett syndrome will be evaluated. Each patient will be self-controlled in an adapted N-of-1 study design methodology by using a 4-week placebo baseline. Vorinostat dose escalation will occur every 8 weeks of daily dosing: placebo, 80mg\u002Fm2\u002Fday, 160mg\u002Fm2\u002Fday.\n\nKey study objectives will include:\n\n* To confirm the safety and tolerability of oral vorinostat 80mg\u002Fm2\u002Fday and 160mg\u002F m2\u002Fday dose levels when administered to typical Rett patients\n* To identify the nature and magnitude of treatment response to vorinostat, as measured by changes in clinical and laboratory parameters indicative of trend towards benefit, as well as changes in mRNA expression (transcriptome response)\n* Provide a data-driven justification for future study design and statistical analysis plan for subsequent clinical studies assessing safety and efficacy of vorinostat in Rett syndrome",[27],[188,189,190,191],"n of 1","single blinded","interventional","rett syndrome","2026-04-27",{"date":194,"type":47},"2026-05-01",{"date":196,"type":47},"2026-03-15",{"date":198,"type":22},"2027-03-15",{"name":200,"class":82},"Unravel Biosciences, Inc.",{"id":202,"slug":203,"hasResults":11,"nctId":204,"briefTitle":205,"officialTitle":206,"acronym":4,"eligibilityCriteria":207,"healthyVolunteers":11,"sex":113,"minAge":23,"maxAge":208,"enrollmentInfo":209,"targetDuration":4,"studyType":66,"phases":211,"briefSummary":212,"conditions":213,"keywords":214,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":216,"lastUpdatePostDateStruct":217,"startDateStruct":219,"completionDateStruct":221,"leadSponsor":223,"locationsCount":225},"100580684","phase-3-to-investigate-the-efficacy-of-treatment-with-oral-na-921-bionetide-versus-placebo-in-females-with-rett-syndrome-100580684","NCT06840496","To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome","A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Phase 3 Study of Bionetide for the Treatment of Girls and Women With Rett Syndrome","INCLUSION CRITERIA\n\n1. Female subjects 5 to 20 years of age, inclusive, at Screening\n2. Body weight ≥12 kg at Screening\n3. Can swallow the study medication provided as a liquid solution or can take it by gastrostomy tube\n4. Has classic\u002Ftypical Rett syndrome (RTT)\n5. Has a documented disease-causing mutation in the MECP2 gene\n6. Has a stable pattern of seizures, or has had no seizures, within 8 weeks of Screening\n7. Subjects of childbearing potential must abstain from sexual activity for the duration of the study and for at least 30 days thereafter or must agree to use acceptable methods of contraception. Subject must not be pregnant or breastfeeding.\n8. The subject's caregiver is English-speaking and has sufficient language skills to complete the caregiver assessments\n9. Subject and caregiver(s) must reside at a location to which study drug can be delivered and have been at their present residence for at least 3 months prior to Screening\n\nEXCLUSION CRITERIA\n\n1. Has been treated with insulin within 12 weeks of Baseline\n2. Has current clinically significant cardiovascular, endocrine (such as hypo- or hyperthyroidism, Type 1 diabetes mellitus, or uncontrolled Type 2 diabetes mellitus), renal, hepatic, respiratory or gastrointestinal disease (such as celiac disease or inflammatory bowel disease) or has major surgery planned during the study\n3. Has a history of, or current, cerebrovascular disease or brain trauma\n4. Has significant, uncorrected visual or uncorrected hearing impairment\n5. Has a history of, or current, malignancy\n6. Has a known history or symptoms of long QT syndrome","20 Years",{"count":210,"type":22},210,[68],"Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome\n\nKey Secondary Objective\n\n• To investigate the efficacy of treatment with oral Bionetide versus placebo on ability to communicate in girls and women with Rett syndrome",[27],[215,30],"Rett syndrome,","2026-03-24",{"date":218,"type":47},"2026-03-27",{"date":220,"type":22},"2026-09-30",{"date":222,"type":22},"2027-12-30",{"name":224,"class":82},"Biomed Industries, Inc.",18,{"id":227,"slug":228,"hasResults":11,"nctId":229,"briefTitle":230,"officialTitle":230,"acronym":4,"eligibilityCriteria":231,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":232,"targetDuration":23,"studyType":24,"phases":4,"briefSummary":234,"conditions":235,"keywords":236,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":238,"lastUpdatePostDateStruct":239,"startDateStruct":241,"completionDateStruct":243,"leadSponsor":245,"locationsCount":104},"100431621","the-rett-syndrome-global-registry-100431621","NCT04900493","The Rett Syndrome Global Registry","Inclusion Criteria:\n\n1. Parent\u002Fcaregiver must be willing and able to provide written informed consent electronically prior to entering data into the registry.\n2. Rett individuals of any age, living or deceased, must have a diagnosis of Rett syndrome and\u002For have a mutation in MECP2.\n\nExclusion Criteria:\n\n1. Individuals who have a genetic mutation that is inconsistent with Rett syndrome or who have a different disorder.\n2. Individuals with MECP2 Duplication Syndrome",{"count":233,"type":22},5000,"The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in to complete medical record consolidation and summary. Qualified researchers and therapeutic developers may request access to de-identified aggregate information to further Rett research, or assist with clinical development planning to facilitate and expedite more effective clinical trials.",[27],[39,41,237],"RSRT","2026-02-12",{"date":240,"type":47},"2026-02-17",{"date":242,"type":47},"2022-01-31",{"date":244,"type":22},"2031-06-30",{"name":246,"class":54},"Rett Syndrome Research Trust",{"id":248,"slug":4,"hasResults":11,"nctId":249,"briefTitle":250,"officialTitle":251,"acronym":4,"eligibilityCriteria":252,"healthyVolunteers":11,"sex":17,"minAge":114,"maxAge":253,"enrollmentInfo":254,"targetDuration":4,"studyType":66,"phases":256,"briefSummary":258,"conditions":259,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":267,"lastUpdatePostDateStruct":268,"startDateStruct":270,"completionDateStruct":272,"leadSponsor":274,"locationsCount":104},"100526778","NCT06139172","Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)","Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities","Inclusion Criteria:\n\n* Age(s) 2-12 years old at time of enrollment\n* Existing genetic syndrome based on clinical or genetic diagnosis and confirmed by medical records\n* Documented diagnosis of global developmental delay (GDD) or intellectual disability (ID)\n* estimated ID in all ranges\n* Disruptive behavior challenges determined to be clinically appropriate for remote, parent-implemented coaching based on clinician determination of acuity of problem behaviors\n* Caregiver who is able to consent in English.\n* Parent\u002Fcaregiver available for weekly intervention sessions\n* Stable psychosocial and psychiatric treatments 3 months prior to baseline visit.\n\nExclusion Criteria:\n\n* High levels of aggression that mitigate remote or outpatient treatment as defined by clinician judgement and\u002For ABC Irritability scores above 20 (i.e., higher level of care needed than provided by study procedures)\n* Medical or psychiatric instability that may limit study participation\n* Meaningful change in medication or psychosocial interventions 3 months prior to baseline visit\n* Limitations in technology access that may hinder participation in remote trial (e.g., declining support provided by study participation)","12 Years",{"count":255,"type":22},92,[257],"NA","The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders.\n\nParticipants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.",[260,261,262,263,264,27,265,266],"Telomeric 22Q13 Monosomy Syndrome","Tuberous Sclerosis","Hamartoma Syndrome, Multiple","Fragile X Syndrome","Angelman Syndrome","Chromosome 15Q, Partial Deletion","Creatine Deficiency, X-linked","2026-01-21",{"date":269,"type":47},"2026-01-23",{"date":271,"type":47},"2023-09-15",{"date":273,"type":22},"2026-12",{"name":275,"class":54},"Rush University Medical Center",{"id":277,"slug":278,"hasResults":11,"nctId":279,"briefTitle":280,"officialTitle":281,"acronym":4,"eligibilityCriteria":282,"healthyVolunteers":11,"sex":113,"minAge":179,"maxAge":180,"enrollmentInfo":283,"targetDuration":4,"studyType":66,"phases":284,"briefSummary":285,"conditions":286,"keywords":287,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":288,"lastUpdatePostDateStruct":289,"startDateStruct":291,"completionDateStruct":293,"leadSponsor":294,"locationsCount":295},"100485864","phase-3-a-phase-123-study-of-tsha-102-gene-therapy-in-females-with-rett-syndrome-reveal-pivotal-study-100485864","NCT05606614","A Phase 1\u002F2\u002F3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)","An Open-label Phase 1\u002F2\u002F3 Study Consisting of a Phase 1\u002F2 Safety and Dose-escalation and Phase 3 Dose-expansion Study to Evaluate Safety and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy in Females With Rett Syndrome","Inclusion Criteria:\n\n* Females between the ages of 12 and \\\u003C22 in Part A (closed) and females between the ages of 6 and \\\u003C22 in Part B (pivotal cohort).\n* Participant has a clinical diagnosis of classic\u002Ftypical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of gene function.\n* Participants must be willing to receive blood or blood products for the treatment of an AE if medically needed.\n* Participants and parent\u002Fcaregiver must agree to reside within easy access to the study site prior to the baseline visit and at least 3 months after TSHA-102 treatment\n\nExclusion Criteria:\n\n* Participant has another neurodevelopmental disorder independent of the MECP2 loss-of-function mutation, or any other genetic syndrome with a progressive course.\n* Participant has a history of brain injury that causes neurological problems or had grossly abnormal psychomotor development in the first 6 months of life.\n* Participant has a diagnosis of atypical Rett syndrome or a MECP2 gene mutation that does not cause Rett syndrome.\n* Participant requires invasive ventilatory support.\n\nNote: Other protocol defined inclusion\u002Fexclusion criteria may apply",{"count":182,"type":22},[68],"The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit\u002Frisk profile based on the totality of safety and efficacy data and to evaluate the efficacy and safety of TSHA-102 at the selected dose.",[27],[27,40,122,39,123,124,125,73,126,127,128,129,130,30,36,131,132,133,134,33,31,135,136,137],"2025-12-29",{"date":290,"type":47},"2025-12-30",{"date":292,"type":47},"2023-03-06",{"date":144,"type":22},{"name":146,"class":82},6,{"id":297,"slug":298,"hasResults":11,"nctId":299,"briefTitle":300,"officialTitle":301,"acronym":302,"eligibilityCriteria":303,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":304,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":306,"conditions":307,"keywords":308,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":315,"lastUpdatePostDateStruct":316,"startDateStruct":318,"completionDateStruct":320,"leadSponsor":322,"locationsCount":117},"100542084","validating-innovative-biosensors-for-rett-autonomic-symptom-tracking-100542084","NCT06338267","Validating Innovative Biosensors for Rett Autonomic Symptom Tracking","Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking","VIBRANT","Inclusion Criteria:\n\n* diagnosis of Rett syndrome with a causative MECP2 genetic variant\n* Access to WiFi\n\nExclusion Criteria:\n\n* Inability of participant to sleep alone\n* prolonged absence from home\n* medication use that may impact heart rate",{"count":305,"type":22},30,"The VIBRANT study aims to validate biosensors to objectively and directly measure symptoms in Rett syndrome and create confidence in the use of these devices in clinical trials. VIBRANT will use several FDA-cleared wearable biosensors and a non-wearable device to collect symptom data from patients with Rett syndrome for up to 9 weeks. Symptoms of interest include heart rate, breathing, sleep, blood oxygen levels, and movement. Participants will use the biosensors intermittently at home, document device use and symptom status, and will come to the clinic for 1 overnight sleep study. A cohort of up to 10 participants receiving an intervention in a separate clinical trial may also enroll and participate on a custom device schedule for up to 1 year.\n\nThe study will provide information on the feasibility and ease of use for families at home, biosensor data will be compared to data collected at the same time from the overnight sleep study to demonstrate how well they work in individuals with Rett syndrome, and Emerald will be developed to include movement as a measurable symptom.",[27],[122,39,73,309,310,311,312,313,314],"device","biosensor","Emerald","Vivalink","Kids O2","sensor","2025-12-18",{"date":317,"type":47},"2025-12-19",{"date":319,"type":47},"2025-03-03",{"date":321,"type":22},"2026-06",{"name":246,"class":54},{"id":324,"slug":325,"hasResults":11,"nctId":326,"briefTitle":327,"officialTitle":328,"acronym":329,"eligibilityCriteria":330,"healthyVolunteers":11,"sex":113,"minAge":331,"maxAge":332,"enrollmentInfo":333,"targetDuration":4,"studyType":66,"phases":335,"briefSummary":337,"conditions":338,"keywords":340,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":343,"lastUpdatePostDateStruct":344,"startDateStruct":346,"completionDateStruct":348,"leadSponsor":350,"locationsCount":104},"100612776","phase-2-efficacy-and-safety-of-nti164-in-children-and-young-adults-with-rett-syndrome-100612776","NCT07257978","Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome","A Phase II\u002FIII Double-blind, Randomised, Placebo-controlled, Crossover Study Investigating the Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome","TRANSCEND","Inclusion Criteria:\n\n1. Females aged 4-25 years of age\n2. Weight ≥12 kg\n3. Classical\u002Ftypical RTT as confirmed with a documented pathogenic variant in the MECP2 gene\n4. At least 6 months post-regression at screening (i.e. no loss or degradation in ambulation, hand function, speech, non-verbal communication, or social skills within 6 months of screening)\n5. Rett Syndrome Clinical Severity Scale rating of 10-36\n6. Clinical Global Impression - Severity of Illness score ≥4\n7. Stable pattern of seizures or has had no seizures within 8 weeks of screening, as determined by the participant's primary physician\n8. Other patient medications must be stable (i.e. no dose adjustments) for at least 8 weeks prior to screening, including steroids, anti-inflammatories, anxiolytics etc\n\nExclusion Criteria:\n\n1. Current clinically significant cardiovascular, endocrine (such as hypo- or hyperthyroidism, type 1 diabetes, or uncontrolled type 2 diabetes), renal, hepatic, respiratory, or gastrointestinal disease (such as coeliac disease or inflammatory bowel disease), or major surgery planned\n2. Known history or symptoms of long QT syndrome\n3. QTcF interval \\>450 milliseconds, history of risk factor for torsades de pointes or clinically significant QT prolongation deemed to increase risk\n4. Currently receiving treatment with DAYBUE™ (Trofinetide)\n5. Currently using other unregistered drugs for the treatment of Rett syndrome, such as Anavex®\n6. Currently using or has used recreational or medicinal cannabis or cannabinoid-based medications, including Sativex® or Epidiolex®, within the 12 weeks prior to screening and is unwilling to abstain for the duration of the trial\n7. A known or suspected hypersensitivity to cannabinoids or any of the excipients\n8. Moderate-severe impairment in hepatic function at screening, defined as serum alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\> 2 x upper limit of normal (ULN), or total bilirubin (TBL) \\> 2 x ULN. This criterion can only be confirmed once laboratory results are available, participants enrolled into the trial who are later found to meet this criterion will be screen-failed.\n9. Participant is enrolled in another clinical trial within 14 days of screening or becomes enrolled in another clinical trial throughout the duration of this study\n10. Infection and\u002For antibiotic use in the 2 weeks prior to screening (participants can be recruited following 2 weeks without infection and\u002For antibiotic use)","4 Years","25 Years",{"count":334,"type":22},40,[336,68],"PHASE2","The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design. RTT is a devastating rare genetic condition affecting females and involves debilitating physical and intellectual symptoms. NTI164 is an oil which has demonstrated efficacy in reducing symptoms in several paediatric neurological conditions, including RTT, autism spectrum disorder (ASD), and paediatric acute-onset neuropsychicatric syndrome (PANS). A Phase I\u002FII clinical trial of NTI164 in RTT (FENRTT1\u002FNTIRTT1) showed NTI164 is safe in this population and significantly improved overall clinical severity of illness, as well as core RTT symptoms, including anxiety, mental alertness, communication skills, socialisation\u002Feye contact, and attentiveness. The FENRTT2 study will investigate NTI164 in a larger number of patients, and compare NTI164 to a placebo control. Research tests on patient blood will also be included to further investigate how NTI164 works in the body.",[339,27],"RETT Syndrome With Proven MECP2 Mutation",[38,122,341,342],"cannabis","NTI164","2025-11-26",{"date":345,"type":47},"2025-12-02",{"date":347,"type":22},"2026-07-01",{"date":349,"type":22},"2028-10-01",{"name":351,"class":82},"Fenix Innovation Group",{"id":353,"slug":354,"hasResults":11,"nctId":355,"briefTitle":356,"officialTitle":357,"acronym":4,"eligibilityCriteria":358,"healthyVolunteers":153,"sex":113,"minAge":359,"maxAge":90,"enrollmentInfo":360,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":362,"conditions":363,"keywords":364,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":367,"lastUpdatePostDateStruct":368,"startDateStruct":370,"completionDateStruct":372,"leadSponsor":374,"locationsCount":295},"100510911","neurophysiologic-biomarkers-in-rett-syndrome-100510911","NCT05932589","Neurophysiologic Biomarkers in Rett Syndrome","Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome","Inclusion Criteria:\n\n1. Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.\n2. Likely Rett Group: Females from 1 year to \\\u003C 5 years of age with MECP2 variant if regression has not yet occurred or child is within 6 months of last skill loss.\n3. Typically developing (TD) Group: Females age matched to RTT population (1-18) with no developmental or cognitive concerns as assessed using the Child\u002FAdult Behavioral Checklist, Survey of Well-Being of Young Children (\\\u003C5yo), or the Wide Range Achievement Test-4 (\\>5 yo).\n\nExclusion Criteria:\n\nRett and Likely Rett Groups:\n\n1. Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.\n2. Active medical conditions not typically found in RTT.\n\nTypically Developing Group:\n\n1. Score below norms on the performance tests\n2. Have a known neurological disorder (excluding migraine)\n3. Being on neuroactive medications.","1 Year",{"count":361,"type":22},202,"The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are:\n\n* Do these biomarkers change during clinical changes in individuals with RTT?\n* Are biomarkers stable over time in clinically stable individuals?\n* Do these biomarkers correlate with severity of RTT?\n\nParticipants will be asked to undergo an electroencephalogram (EEG) with measurements of Evoked Potentials (EP) to measure electrical activity in the brain.\n\nResearchers will compare findings in individuals with RTT to those in typically developing individuals to see if there are differences between the two groups.",[27,73,28],[365,160,366,39],"Biomarker","Evoked Potentials","2025-10-17",{"date":369,"type":47},"2025-10-20",{"date":371,"type":47},"2023-10-11",{"date":373,"type":22},"2029-03-31",{"name":375,"class":54},"Children's Hospital of Philadelphia",{"id":377,"slug":378,"hasResults":11,"nctId":379,"briefTitle":380,"officialTitle":381,"acronym":382,"eligibilityCriteria":383,"healthyVolunteers":11,"sex":113,"minAge":384,"maxAge":4,"enrollmentInfo":385,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":386,"conditions":387,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":388,"lastUpdatePostDateStruct":389,"startDateStruct":391,"completionDateStruct":393,"leadSponsor":395,"locationsCount":104},"100496171","gene-editing-as-a-therapeutic-approach-for-rett-syndrome-100496171","NCT05740761","Gene Editing as a Therapeutic Approach for Rett Syndrome","Personalized MECP2 Gene Therapy Using CRISPR\u002FCas9 Technology Coupled to AAV-mediated Delivery in 3D Cell Culture and KI Mice","MECPer-3D","Inclusion Criteria:\n\n* Patients -exclusively female- since the pathology is linked to the X chromosome, with a clinical diagnosis of Rett syndrome confirmed at the genetic level by the identification, through NGS analysis, for one of the recurrent mutations (mutational hotspots) in the MECP2 gene object of the study:\n\n  c. 473C\\>T - (p.(T158M)), c.502C\\>T (p(R168X)), c.763C\\>T (p.(R255X)), c.916C\\>T (p.(R306C));\n* Age above 6 months;\n* Availability of parents or legal guardians to provide free and informed consent to participate in the study\n\nExclusion Criteria:\n\n* NGS diagnosis with the normal outcome;\n* Positive NGS diagnosis for mutation in MECP2 but with the presence of a mutation different from those under study.\n* Unwillingness of parents or legal guardians to provide free and informed consent to participate in the study;","6 Months",{"count":334,"type":22},"We designed the project to validate CRISPR\u002FCas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.",[27],"2025-08-14",{"date":390,"type":47},"2025-08-20",{"date":392,"type":47},"2021-03-01",{"date":394,"type":22},"2026-03-01",{"name":396,"class":54},"University of Siena",{"id":398,"slug":399,"hasResults":11,"nctId":400,"briefTitle":401,"officialTitle":401,"acronym":4,"eligibilityCriteria":402,"healthyVolunteers":11,"sex":113,"minAge":114,"maxAge":180,"enrollmentInfo":403,"targetDuration":4,"studyType":66,"phases":405,"briefSummary":406,"conditions":407,"keywords":408,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":409,"lastUpdatePostDateStruct":410,"startDateStruct":412,"completionDateStruct":414,"leadSponsor":416,"locationsCount":104},"100365703","phase-2-a-pilot-study-of-an-antioxidant-cocktail-vs-placebo-in-the-treatment-of-children-and-adolescents-with-rett-syndrome-100365703","NCT04041713","A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome","Inclusion Criteria:\n\n1. Female outpatients 2-21 years of age inclusive.\n2. Diagnosis of Rett syndrome.\n3. At least partially ambulatory (may need assistive device to take a step).\n4. If already receiving stable interventions must meet the following criteria:\n\n   * If already receiving stable concomitant medications or nutraceuticals affecting behaviour, must be on a stable dose during the preceding 1 month prior to Screening (with the exception of fluoxetine, where a period of 6 weeks is needed), and will not electively initiate new or modify ongoing medications for study duration.\n5. Have normal laboratory test results at Screening\u002FBaseline. If abnormal, the finding(s) must be deemed clinically insignificant by the Investigator.\n6. Ability to complete assessments, fluency in English (parent\u002Flegal guardian; participant, if verbal).\n7. Ability to obtain assent (if developmentally appropriate), as well as written informed consent from their parent(s)\u002Flegal guardian(s).\n\nExclusion Criteria:\n\n1. Pregnant females; sexually active females on inadequate birth control (extremely unlikely in this population).\n2. Have another serious medical condition that, based on Investigator judgment, might interfere with the conduct of the study, confound interpretation of the study results, or endanger their own well-being. Have evidence or history of malignancy or any significant hematological, endocrine, cardiovascular (including any rhythm disorder), respiratory, renal, hepatic, or gastrointestinal disease, not including mild common pediatric diseases in these areas that are stable (e.g. mild asthma, constipation, etc.).\n3. Have hypersensitivity to any components of Rett-T.\n4. Have one or more of the following: HIV, HBV, HCV, hemophilia (bleeding problems, recent nose and brain injuries), drug abuse, immunity disorder, major depressive episode or psychosis.\n5. Unable to tolerate venipuncture procedures for blood sampling.\n6. Receiving concomitant medications\u002Fnutraceuticals that include any of the components of Rett-T.\n7. Actively enrolled in another intervention study.",{"count":404,"type":22},35,[336],"This study will examine the potential efficacy and safety of Rett-T for core motor deficits of Rett syndrome, and will explore biological markers of safety and treatment response.",[27],[27,122,73],"2025-07-14",{"date":411,"type":47},"2025-07-16",{"date":413,"type":22},"2025-10-01",{"date":415,"type":22},"2026-11-30",{"name":417,"class":54},"Holland Bloorview Kids Rehabilitation Hospital",{"id":419,"slug":420,"hasResults":11,"nctId":421,"briefTitle":422,"officialTitle":423,"acronym":4,"eligibilityCriteria":424,"healthyVolunteers":11,"sex":17,"minAge":331,"maxAge":425,"enrollmentInfo":426,"targetDuration":4,"studyType":66,"phases":428,"briefSummary":429,"conditions":430,"keywords":431,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":436,"lastUpdatePostDateStruct":437,"startDateStruct":439,"completionDateStruct":441,"leadSponsor":443,"locationsCount":104},"100440221","measuring-impact-of-computer-gaming-on-arm-use-in-rett-syndrome-100440221","NCT05012475","Measuring Impact of Computer Gaming on Arm Use in Rett Syndrome","Assessing the Effectiveness of Customized Computer Activities on Reducing Stereotypies and Improving Independent Upper Extremity Motor Skills in Persons with Rett Syndrome","Inclusion Criteria:\n\n* Rett syndrome,\n* Understanding of cause and effect,\n* Functional range of motion of arms to complete the movements needed to control the games.\n\nExclusion Criteria:\n\n* no competing orthopedic or neuromuscular diagnosis that impacts shoulder movements","60 Years",{"count":427,"type":22},10,[257],"Using a tele-research approach, we will recruit, enroll, guide and support carers and participants to engage in computer based activities (modified virtual reality) with the primary outcome of reducing stereotypies and increasing independent arm and hand use and secondary outcome of improving quality of living. Because of our virtual approach, we are able to recruit from multiple countries and all states and territories of the USA.",[27],[432,433,434,435],"enrichment","sensory stimulation","motor recovery","upper extremity function","2024-10-01",{"date":438,"type":47},"2024-10-03",{"date":440,"type":47},"2021-05-01",{"date":442,"type":22},"2025-12-01",{"name":444,"class":54},"Georgetown University",{"id":446,"slug":447,"hasResults":11,"nctId":448,"briefTitle":449,"officialTitle":450,"acronym":451,"eligibilityCriteria":452,"healthyVolunteers":11,"sex":17,"minAge":90,"maxAge":4,"enrollmentInfo":453,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":455,"conditions":456,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":488,"lastUpdatePostDateStruct":489,"startDateStruct":491,"completionDateStruct":493,"leadSponsor":495,"locationsCount":104},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":454,"type":22},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[457,458,459,460,461,462,463,464,465,466,467,468,261,469,470,471,472,473,474,475,476,477,478,479,480,481,27,482,483,484,485,486,487],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":490,"type":47},"2023-09-06",{"date":492,"type":47},"2018-10-01",{"date":494,"type":22},"2030-01-01",{"name":496,"class":54},"dr. Laura C. G. de Graaff-Herder"]